A new model to study neurodegeneration in ataxia oculomotor apraxia type 2

BRCA1 Recruitment to Transcriptional Pause Sites Is Required for R-Loop-Driven DNA Damage Repair

(2015) Elodie Hatchi et al.   MOLECULAR CELL

Senataxin suppresses the antiviral transcriptional response and controls viral biogenesis

(2015) Matthew S Miller et al.   NATURE IMMUNOLOGY

DNA-Damage-Induced Type I Interferon Promotes Senescence and Inhibits Stem Cell Function

(2015) Qiujing Yu et al.   Cell Reports

Self-Organization of Polarized Cerebellar Tissue in 3D Culture of Human Pluripotent Stem Cells

(2015) Keiko Muguruma et al.   Cell Reports

Senataxin controls meiotic silencing through ATR activation and chromatin remodeling

(2015) Abrey J Yeo et al.   Cell Discovery

Cytosolic RNA:DNA hybrids activate the cGAS–STING axis

(2014) Arun K Mankan et al.   EMBO JOURNAL

RNA:DNA hybrids are a novel molecular pattern sensed by TLR9

(2014) R. E. Rigby et al.   EMBO JOURNAL

Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2

(2014) Brent L. Fogel et al.   HUMAN MOLECULAR GENETICS

Ataxia with oculomotor apraxia type 2 fibroblasts exhibit increased susceptibility to oxidative DNA damage

(2014) Ricardo H. Roda et al.   JOURNAL OF CLINICAL NEUROSCIENCE

R-Loops in Proliferating Cells but Not in the Brain: Implications for AOA2 and Other Autosomal Recessive Ataxias

(2014) Abrey J. Yeo et al.   PLoS One

Bacterial RNA:DNA hybrids are activators of the NLRP3 inflammasome

(2014) S. Kailasan Vanaja et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Alteration in basal and depolarization induced transcriptional network in iPSC derived neurons from Timothy syndrome

(2014) Yuan Tian et al.   Genome Medicine

Out of Balance: R-loops in Human Disease

(2014) Matthias Groh et al.   PLoS Genetics

DNA Topoisomerase II Is Dispensable for Oocyte Meiotic Resumption but Is Essential for Meiotic Chromosome Condensation and Separation in Mice1

(2013) Xiao-Meng Li et al.   BIOLOGY OF REPRODUCTION

Novel SETX variants in a patient with ataxia, neuropathy, and oculomotor apraxia are associated with normal sensitivity to oxidative DNA damaging agents

(2013) Chiara Vantaggiato et al.   BRAIN & DEVELOPMENT

Rit subfamily small GTPases: Regulators in neuronal differentiation and survival

(2013) Geng-Xian Shi et al.   CELLULAR SIGNALLING

The appropriateness of the mouse model for ataxia-telangiectasia: Neurological defects but no neurodegeneration

(2013) Martin F. Lavin   DNA REPAIR

DNA strand break repair and neurodegeneration

(2013) Stuart L. Rulten et al.   DNA REPAIR

A SUMO-dependent interaction between Senataxin and the exosome, disrupted in the neurodegenerative disease AOA2, targets the exosome to sites of transcription-induced DNA damage

(2013) P. Richard et al.   GENES & DEVELOPMENT

Antisense transcripts enhanced by camptothecin at divergent CpG-island promoters associated with bursts of topoisomerase I-DNA cleavage complex and R-loop formation

(2013) Jessica Marinello et al.   NUCLEIC ACIDS RESEARCH

Axonal protection by Nmnat3 overexpression with involvement of autophagy in optic nerve degeneration

(2013) Y Kitaoka et al.   Cell Death & Disease

Genes and pathways underlying regional and cell type changes in Alzheimer's disease

(2013) Jeremy A Miller et al.   Genome Medicine

Senataxin Plays an Essential Role with DNA Damage Response Proteins in Meiotic Recombination and Gene Silencing

(2013) Olivier J. Becherel et al.   PLoS Genetics

Role of DNMT3B in the regulation of early neural and neural crest specifiers

(2012) Kristen Martins-Taylor et al.   Epigenetics

Senataxin, Defective in the Neurodegenerative Disorder Ataxia with Oculomotor Apraxia 2, Lies at the Interface of Transcription and the DNA Damage Response

(2012) O. Yuce et al.   MOLECULAR AND CELLULAR BIOLOGY

Inflammasomes in carcinogenesis and anticancer immune responses

(2012) Laurence Zitvogel et al.   NATURE IMMUNOLOGY

Induced Pluripotent Stem Cells from Ataxia-Telangiectasia Recapitulate the Cellular Phenotype

(2012) Sam Nayler et al.   Stem Cells Translational Medicine

Senataxin modulates neurite growth through fibroblast growth factor 8 signalling

(2011) Chiara Vantaggiato et al.   BRAIN

Human Senataxin Resolves RNA/DNA Hybrids Formed at Transcriptional Pause Sites to Promote Xrn2-Dependent Termination

(2011) Konstantina Skourti-Stathaki et al.   MOLECULAR CELL

A Systems Level, Functional Genomics Analysis of Chronic Epilepsy

(2011) Kellen D. Winden et al.   PLoS One

The Neurogenic Basic Helix-Loop-Helix Transcription Factor NeuroD6 Confers Tolerance to Oxidative Stress by Triggering an Antioxidant Response and Sustaining the Mitochondrial Biomass

(2010) Martine Uittenbogaard et al.   ASN Neuro

Role of senataxin in DNA damage and telomeric stability

(2010) Andrea De Amicis et al.   DNA REPAIR

UHRF1, a modular multi-domain protein, regulates replication-coupled crosstalk between DNA methylation and histone modifications

(2010) Hideharu Hashimoto et al.   Epigenetics

Loss of Topoisomerase I leads to R-loop-mediated transcriptional blocks during ribosomal RNA synthesis

(2010) A. El Hage et al.   GENES & DEVELOPMENT

Ontogeny-recapitulating generation and tissue integration of ES cell–derived Purkinje cells

(2010) Keiko Muguruma et al.   NATURE NEUROSCIENCE

Quaking I controls a unique cytoplasmic pathway that regulates alternative splicing of myelin-associated glycoprotein

(2010) L. Zhao et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Weighted gene co-expression network analysis of the peripheral blood from Amyotrophic Lateral Sclerosis patients

(2009) Christiaan GJ Saris et al.   BMC GENOMICS

Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients

(2009) M. Anheim et al.   BRAIN

Functional role for senataxin, defective in ataxia oculomotor apraxia type 2, in transcriptional regulation

(2009) Amila Suraweera et al.   HUMAN MOLECULAR GENETICS

Weighted gene co-expression network analysis identifies biomarkers in glycerol kinase deficient mice

(2009) Nicole K. MacLennan et al.   MOLECULAR GENETICS AND METABOLISM

Live cell imaging distinguishes bona fide human iPS cells from partially reprogrammed cells

(2009) Elayne M Chan et al.   NATURE BIOTECHNOLOGY

Characterization of two novel SETX mutations in AOA2 patients reveals aspects of the pathophysiological role of senataxin

(2009) Giovanni Airoldi et al.   NEUROGENETICS

Longitudinal system-based analysis of transcriptional responses to type I interferons

(2009) D. J. Pappas et al.   PHYSIOLOGICAL GENOMICS

Human Induced Pluripotent Stem Cells Free of Vector and Transgene Sequences

(2009) J. Yu et al.   SCIENCE

Nuclear Factor One Transcription Factors in CNS Development

(2008) Sharon Mason et al.   MOLECULAR NEUROBIOLOGY

Genetics of gene expression and its effect on disease

(2008) Valur Emilsson et al.   NATURE